ClinVar Miner

Submissions for variant NM_000240.3(MAOA):c.133C>T (p.Arg45Trp) (rs796065312)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GOLD service, Hunter New England Health RCV000190424 SCV000191919 pathogenic Brunner syndrome 2014-11-10 criteria provided, single submitter clinical testing Phenotype consistent with described MAOA deficiency. Functional studies (bioamine levels in blood and urine) consistent with MAOA deficiency. Predicted Pathogenic PROVEAN, SIFT, Mutation Taster. Not listed Exac Database.
OMIM RCV000190424 SCV000747034 pathogenic Brunner syndrome 2015-03-23 no assertion criteria provided literature only

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